Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is an autoimmune disease characterized by autoantibodies against neutrophil cytoplasmic antigens such as myeloperoxidase (MPO) and proteinase 3 (PR3). AAV affects small blood vessels, leading to systemic inflammation and multiorgan damage. Recent advances in multi-omics analyses, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, have significantly improved our understanding of AAV complex pathophysiology. Genome-wide association studies (GWASs) have revealed robust genetic associations, especially within the human leukocyte antigen (HLA) region. Epigenomic analyses have elucidated regulatory mechanisms that affect autoantigen gene expression and disease activity. Transcriptomic approaches, particularly single-cell RNA sequencing (scRNA-seq), have identified distinct gene expression profiles and cellular interactions, which have been further enriched by the recent application of spatial transcriptomics of diseased tissues. Proteomic and metabolomic approaches have been used to identify potential biomarkers. This review discusses recent advances in multi-omics research aimed at developing personalized diagnostic and therapeutic strategies based on the molecular and genetic profiles of AAV.
Miyamoto et al. (Wed,) studied this question.